What Is Fragile X Syndrome?
Reviewed: Dr. Gromatzky
8. Diagnosis
Sometimes doctors may suspect fragile X syndrome based on a patient’s physical appearance, behavior, or other symptoms. Doctors recommend tests for these individuals, as well as for anyone with a family history of similar symptoms or known FMR1 mutations. Expectant mothers also may undergo genetic tests.
A 99% accurate test for the FMR1 mutation has been available since the 1990s. Patients supply blood or amniotic fluid for the test, which is accomplished using either Southern blot analysis or polymerase chain reaction analysis. It costs between $300 and $600 and can return results within one to four weeks.
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